Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.P126Q
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ADA

NM_000022.4:p.P126Q

Associated Papers

Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.

Essadssi S et al.

Journal of Immunology Research, 2019

31781678 (PubMed )
Supplement: 5902391.f1.pdf

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Gallo V et al.

Frontiers in Immunology, 2016

Genotype is an important determinant of phenotype in adenosine deaminase deficiency.

Hershfield MS

Current Opinion in Immunology, 2003

The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency.

Richard E et al.

The Journal of Experimental Medicine, 2000

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

Arredondo-Vega FX et al.

American Journal of Human Genetics, 1998

Adenosine deaminase deficiency in adults.

Ozsahin H et al.

Blood, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."